A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report.

Date publication

septembre 2020

Journal

BMC medical genetics

Auteurs

Membres identifiés du Cancéropôle Est :
Pr BAHRAM Siamak , Dr CARAPITO Raphaël

Tous les auteurs :
Jacob A, Pasquier J, Carapito R, Auradé F, Molitor A, Froguel P, Fakhro K, Halabi N, Viot G, Bahram S, Rafii A

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/32943010

Résumé

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant genetic disease characterized by intellectual and growth retardations, as well as major microcephaly, induced by missense and splice site variants or microdeletions in the EFTUD2 gene.

Mots clés

Case report, EFTUD2, Exonic splice enhancer variant, Mandibulofacial dysostosis with microcephaly, Synonymous splice variant, Whole-exome sequencing, de novo

Référence

BMC Med. Genet.. 2020 Sep 17;21(1):182